50 citations
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December 2005 in “European Journal of Immunology” This study found that a specific mutation in the mouse RXRalpha gene significantly impacts immune responses and causes hair loss and skin cysts.
October 2021 in “Journal of Investigative Dermatology” This study found no significant difference in SARS-CoV2 IgG seroconversion rates between patients with immune-mediated inflammatory diseases treated with targeted immune-modulating therapies and those on conventional systemic treatments.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” This research discusses potential cancer vaccine strategies using cell-based and DNA vector-based approaches, and suggests targeting the v3 splice variant of thioredoxin reductase 1 to inhibit cancer cell motility and metastasis formation.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
1 citations
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April 2018 in “Journal of Investigative Dermatology” This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.
40 citations
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October 2009 in “Journal of Biomedical Nanotechnology” This review discusses pyrene excimer nucleic acid probes for detecting biomolecules and protein-DNA interactions and reports no new experimental findings.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
September 2025 in “American Journal of Dermatopathology” In this research, most cases of mammary and extramammary Paget disease were reported to express PRAME, expanding the understanding of its presence in cutaneous epithelial tumors, though its diagnostic utility is limited by overlap with other conditions.
80 citations
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April 2017 in “Frontiers in Pharmacology” This review examines experimental and clinical evidence on PDRN, a drug derived from salmon DNA that acts via the adenosine A2A receptor and shows promise for tissue repair and treatment of diabetic foot ulcers in regenerative medicine.
2 citations
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November 2004 in “Blood” In this study, researchers reported that the Pinkie mutation in mice, affecting RXRa activity, leads to skewed Th1 development and suggests RXRa's role in Th2 differentiation, impacting immune responses.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
303 citations
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October 2000 in “Nature” This study found that RXRα plays a critical role in hair cycling and keratinocyte functions in mice, likely through its interaction with VDR in epidermal cells.
March 2023 in “The Journal of Urology” This study found that higher baseline expression of SRD5A2 in prostate tissue was associated with a better response to finasteride in men with benign prostatic hyperplasia.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
76 citations
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September 1992 in “Endocrinology” This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
11 citations
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August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
1 citations
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January 1989 in “Carcinogenesis” This study found that dexamethasone treatment inhibited the inflammatory response and the induction of ornithine decarboxylase activity in mouse skin after TPA application, although the effect on ODC was weaker during the hyperplastic stage.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
January 2002 in “映像情報メディア学会技術報告” This study found that 60% of examined prostate tumors had new somatic substitutions in the SRD5A2 gene, affecting enzyme activity and potentially influencing prostate cancer progression.
April 2026 in “Tissue Engineering and Regenerative Medicine” This study found that the GPRC6A-Duox1 signaling pathway influences hair cycle progression and testosterone-mediated hair loss in mice, suggesting that disruption of this pathway leads to resistance against testosterone-induced hair loss and longer anagen phase duration.
2 citations
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August 2025 in “Scientific Reports” This study analyzed pexidartinib-associated adverse events from FDA data and reported common events such as hepatic issues and systemic reactions. It highlighted sex-specific susceptibilities and reinforced the need for risk mitigation and long-term monitoring in tenosynovial giant cell tumor management.
76 citations
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January 1998 in “Mammalian Genome” 5 citations
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October 2021 in “Journal of the American Academy of Dermatology” PRAME helps distinguish between benign and malignant skin cells in most cases.